Informations générales (source: ClinicalTrials.gov)
Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand Est and Nouvelle Aquitaine (DEPISMA)
Observational [Patient Registry]
University Hospital, Strasbourg, France (Voir sur ClinicalTrials)
décembre 2022
décembre 2024
08 mars 2025
Spinal muscular atrophy (SMA) is a genetic disease of the nervous system that affects
about 1 in 7,0001.2 births and results in very high mortality for patients with the
disease. There are about 120 new cases in France each year and an estimated total of 2500
patients. It is the leading cause of genetic mortality in children in France. Until 2017,
no etiological treatment was available. Currently, three treatments have been approved
and have authorizations in France. The current clinical developments in SMA show the
importance of an early treatment for patients. 3. The identification of pre-symptomatic
patients is therefore essential to improve the effectiveness of treatments on an
individual level and to avoid any loss of chance, as well as to reduce the societal cost
of disability for patients treated in post-symptomatic. Several countries in Europe and
around the world have implemented regional pilot screening programs for the disease. The
screening test is based on a molecular genetic analysis that has been performed for many
years, and which is highly reliable; there is currently no biochemical marker that can be
used.
The objective of our project is to demonstrate the feasibility of neonatal screening for
spinal amyotrophy in two French regions before being able to propose to extend it to the
whole of France. The management of all screened patients will be decided outside the
pilot study, by the existing national multidisciplinary consultation meeting, according
to the best available standards of care and will be based on the national network of
neuromuscular disease reference centers The objective of the project is not the
evaluation of the efficacy of treatments or neonatal screening: these objectives are
being studied by existing or otherwise ongoing studies around the world.
This project has been set up to be in line with the existing structures in France that
are responsible for neonatal screening (via the regional neonatal screening centers
(CRDN) and the regional perinatal networks) and for the management of rare diseases (via
the neuromuscular disease reference centers and their FILNEMUS network). This project is
performed in collaboration with AFM Telethon, Directorate of Health Care Supply, Regional
Health Agency (ARS), FILNEMUS network, Novartis Gene Therapies, Roche Pharma AG,Biogen.
Investigator wish, as far as possible, to bring this study closer to real life and to be
able to generate as much information as possible that can be used directly to prefigure
the potential generalization of this screening strategy to the entire national territory.
Etablissements
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| Ch de Briey- Hôpital Maillot - Briey - France | Blandine POIREL | Contact (sur clinicalTrials) | |||
| Ch de Chalons En Champagne - Châlons-en-Champagne - Champagne Ardennes - France | Corentine SOUMIREU LARTIGUES | Contact (sur clinicalTrials) | |||
| Ch de Chaumont - Chaumont - Champagne Ardennes - France | Carmell TETE | Contact (sur clinicalTrials) | |||
| Ch de Colmar - Hôpital Louis Pasteur - Colmar - Alsace - France | Didier CHOGNOT | Contact (sur clinicalTrials) | |||
| Ch de Haguenau - Haguenau - Alsace - France | Mathilde SIDLOVSKI | Contact (sur clinicalTrials) | |||
| Ch de Luneville - Lunéville - Lorraine - France | Lucille SABA | Contact (sur clinicalTrials) | |||
| Ch de Mont St Martin - Mont-Saint-Martin - Lorraine - France | Ruffin BONGO BOINA | Contact (sur clinicalTrials) | |||
| Ch de Remiremont - Remiremont - Lorraine - France | Maxime SCHVARTZ | Contact (sur clinicalTrials) | |||
| Ch de Sarreguemines Hôpital Robert Pax - Sarreguemines - Lorraine - France | Audrey ECKMANN | Contact (sur clinicalTrials) | |||
| Ch de Selestat - Sélestat - Alsace - France | Izzat MIKAIL | Contact (sur clinicalTrials) | |||
| Ch de Verdun St Mihiel Hôpitalst Nicolas - Saint-Mihiel - Lorraine - France | Contact (sur clinicalTrials) | ||||
| Ch Emile Durckheim - 88000 - Epinal - Lorraine - France | Aude MICHEL | Contact (sur clinicalTrials) | |||
| Ch Epernay - 51200 - Épernay - Champagne Ardennes - France | Carine DEMYTRI | Contact (sur clinicalTrials) | |||
| Ch Genevieve Anthonioz de Gaulle - Saint-Dizier - Champagne Ardennes - France | Céline ROUYER | Contact (sur clinicalTrials) | |||
| Ch Marie Madeleine - Forbach - Lorraine - France | Riad HATAHET | Contact (sur clinicalTrials) | |||
| Ch Saint Nicolas - Sarrebourg - Lorraine - France | Boualem SIOUALA | Contact (sur clinicalTrials) | |||
| Ch St Charles - Saint-Dié-des-Vosges - Lorraine - France | Christine BRAGA | Contact (sur clinicalTrials) | |||
| Ch St Charles - Toul - Lorraine - France | Nicole JULIEN | Contact (sur clinicalTrials) | |||
| Ch Ste Catherine - Saverne - Alsace - France | Heidi FORLER | Contact (sur clinicalTrials) | |||
| Ch Troyes - 10000 - Troyes - Champagne Ardennes - France | Anne BEVIER | Contact (sur clinicalTrials) | |||
| Chic de La Lauter - Wissembourg - Alsace - France | Régine RAMBOS | Contact (sur clinicalTrials) | |||
| Chic L'Ouest Vosgien Site Neufchateau - Neufchâteau - Lorraine - France | Raluca NEMES | Contact (sur clinicalTrials) | |||
| CHIna HOPITAL MANCHESTER - 08000 - Charleville-Mézières - Champagne Ardennes - France | Elsa SEYS | Contact (sur clinicalTrials) | |||
| Chr Metz Thionville Hôpital de Mercy - Thionville - Lorraine - France | Claire BILBAULT | Contact (sur clinicalTrials) | |||
| Chru Nancy-Maternite - Nancy - Lorraine - France | Laurélia JOURDAN | Contact (sur clinicalTrials) | |||
| Chu Reims Höpital Maison Blanche - Reims - Champagne Ardennes - France | Contact (sur clinicalTrials) | ||||
| Clinique Claude Bernard - Metz - Lorraine - France | Anne TAYON | Contact (sur clinicalTrials) | |||
| Clinique Diaconat Fonderie de Mulhouse - Mulhouse - Alsace - France | Patricia WATRELOS | Contact (sur clinicalTrials) | |||
| Clinique Rhena - Strasbourg - Alsace - France | Catherine SCHARF | Contact (sur clinicalTrials) | |||
| Clinique St Nabor - Saint-Avold - Lorraine - France | Sylvie Lalouette | Contact (sur clinicalTrials) | |||
| Clinique Ste Anne - Strasbourg - Alsace - France | Jean-François DELOBBE | Contact (sur clinicalTrials) | |||
| Cmco Chru de Strasbourg - Schiltigheim - Alsace - France | Imad LABBASSI | Contact (sur clinicalTrials) | |||
| Groupement Hospitalier Aube Marne - 10100 - Romilly-sur-Seine - Champagne Ardennes - France | Christelle BANRY | Contact (sur clinicalTrials) | |||
| Hôpital Albert Schweitzer - Clinique Du Diaconat de Colmar - Colmar - Alsace - France | Marc EDRISS | Contact (sur clinicalTrials) | |||
| Hôpital Bel Air - Chr Metz -Thionville - Thionville - Lorraine - France | Prisca MARTINI | Contact (sur clinicalTrials) | |||
| Hôpital Emile Muller - Mulhouse - Alsace - France | Céline HOMATTER | Contact (sur clinicalTrials) | |||
| POLYCLINIQUE BEZANNES/Courlancy - Bezannes - Champagne Ardennes - France | Benoît EMERIQUE | Contact (sur clinicalTrials) | |||
| Polyclinique Majorelle de Nancy - Nancy - Lorraine - France | Amélie BITTNER | Contact (sur clinicalTrials) | |||
| Vincent LAUGEL - 67100 - Strasbourg - France | Vincent LAUGEL | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
-
- Newborns born in the Grand-Est or Nouvelle Aquitaine regions during the study
period
- Parent(s) or legal guardian(s) who do not object to "conventional" newborn screening
- Parent(s) or legal guardian(s) who give consent for newborn screening for SMA
- Child with health coverage
-
- Newborns born in the Grand-Est or Nouvelle Aquitaine regions during the study
period
- Parent(s) or legal guardian(s) who do not object to "conventional" newborn screening
- Parent(s) or legal guardian(s) who give consent for newborn screening for SMA
- Child with health coverage
- Parent(s) under curators or guardianship